Mutagenetix > Incidental Mutation

Incidental Mutation 'R0570:Fam234b'

46374

Institutional Source

Beutler Lab

Gene Symbol

Fam234b

Ensembl Gene

ENSMUSG00000030207

Gene Name

family with sequence similarity 234, member B

Synonyms

8430419L09Rik

MMRRC Submission

038761-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135173881-135213240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135186247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 85 (S85L)

Ref Sequence

ENSEMBL: ENSMUSP00000107547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111916] [ENSMUST00000130612] [ENSMUST00000151071]

AlphaFold

Q8BYI8

Predicted Effect

probably benign
Transcript: ENSMUST00000111915
AA Change: S85L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: S85L

Domain	Start	End	E-Value	Type
transmembrane domain	105	127	N/A	INTRINSIC
low complexity region	500	517	N/A	INTRINSIC
low complexity region	521	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111916
AA Change: S85L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: S85L

Domain	Start	End	E-Value	Type
transmembrane domain	105	127	N/A	INTRINSIC
low complexity region	500	517	N/A	INTRINSIC
low complexity region	521	528	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000130612
AA Change: R55W

Predicted Effect

unknown
Transcript: ENSMUST00000151071
AA Change: R55W

Meta Mutation Damage Score

0.1183

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (85/85)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	C	A	8: 84,729,733 (GRCm39)		probably benign	Het
Aadacl3	C	T	4: 144,190,130 (GRCm39)	W57*	probably null	Het
Abca2	G	T	2: 25,337,417 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,593,373 (GRCm39)	I257V	probably benign	Het
Adamts2	A	G	11: 50,666,963 (GRCm39)	D420G	probably damaging	Het
Adamts5	A	G	16: 85,696,135 (GRCm39)	F341L	probably damaging	Het
Ahnak	T	A	19: 8,991,062 (GRCm39)	D4115E	probably damaging	Het
Arhgap20	T	C	9: 51,751,751 (GRCm39)	S365P	possibly damaging	Het
Atrn	G	A	2: 130,822,054 (GRCm39)	V916I	probably benign	Het
Blmh	T	C	11: 76,856,651 (GRCm39)	V82A	probably damaging	Het
C1ra	A	T	6: 124,490,664 (GRCm39)	Y19F	probably benign	Het
Cactin	A	G	10: 81,159,067 (GRCm39)	E306G	probably damaging	Het
Celsr1	C	T	15: 85,787,566 (GRCm39)	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,631,110 (GRCm39)	E250G	probably benign	Het
Col17a1	A	T	19: 47,654,317 (GRCm39)	S647T	possibly damaging	Het
Cope	T	A	8: 70,759,181 (GRCm39)	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,403,435 (GRCm39)	I198T	probably damaging	Het
Elfn2	T	C	15: 78,557,434 (GRCm39)	N371S	probably damaging	Het
Elmo2	G	T	2: 165,146,839 (GRCm39)	A246D	probably benign	Het
Ewsr1	A	T	11: 5,035,935 (GRCm39)	M187K	possibly damaging	Het
Faap100	A	T	11: 120,265,114 (GRCm39)	S587R	possibly damaging	Het
Fanca	A	T	8: 124,033,169 (GRCm39)	S292R	probably benign	Het
Fanci	G	A	7: 79,093,711 (GRCm39)	C1021Y	probably damaging	Het
Fhod3	T	C	18: 25,245,640 (GRCm39)	I1230T	probably benign	Het
Fmo5	T	C	3: 97,536,456 (GRCm39)	L27S	probably damaging	Het
Fmo9	A	G	1: 166,502,031 (GRCm39)	V147A	probably null	Het
Fnbp4	A	G	2: 90,583,301 (GRCm39)	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,666,844 (GRCm39)	T229A	probably benign	Het
Gapvd1	A	G	2: 34,618,552 (GRCm39)	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,165,541 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,730,480 (GRCm39)	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,630,460 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,237,785 (GRCm39)		probably null	Het
H2-Q1	A	G	17: 35,540,373 (GRCm39)	T153A	possibly damaging	Het
Ina	A	C	19: 47,011,938 (GRCm39)	E452A	probably benign	Het
Kars1	A	G	8: 112,721,494 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,595,291 (GRCm39)	E124G	probably damaging	Het
Lpin3	T	C	2: 160,745,944 (GRCm39)		probably benign	Het
Lrp1	A	T	10: 127,390,878 (GRCm39)	C3006*	probably null	Het
Lyst	T	C	13: 13,883,971 (GRCm39)	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Melk	T	C	4: 44,308,906 (GRCm39)	Y88H	probably damaging	Het
Myrf	A	G	19: 10,189,161 (GRCm39)	S857P	probably damaging	Het
Nos2	A	G	11: 78,826,187 (GRCm39)	I153M	possibly damaging	Het
Or4n4	T	G	14: 50,519,370 (GRCm39)	L113F	probably benign	Het
Otof	A	G	5: 30,529,225 (GRCm39)		probably benign	Het
Patl2	A	G	2: 121,955,789 (GRCm39)	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,389,580 (GRCm39)	Y19C	probably benign	Het
Pcnt	A	T	10: 76,247,941 (GRCm39)	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,520,710 (GRCm39)	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,210,775 (GRCm39)	M761L	probably benign	Het
Pi16	A	T	17: 29,538,189 (GRCm39)	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,603,471 (GRCm39)		probably benign	Het
Plcb2	A	G	2: 118,547,806 (GRCm39)	W474R	probably benign	Het
Psapl1	A	G	5: 36,361,624 (GRCm39)	D72G	possibly damaging	Het
Ptpn5	T	A	7: 46,728,681 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,215,896 (GRCm38)	E1115G	probably damaging	Het
Rassf1	C	T	9: 107,435,165 (GRCm39)	T224I	probably damaging	Het
Rbpms2	T	A	9: 65,566,476 (GRCm39)	C168*	probably null	Het
Rhag	A	G	17: 41,139,804 (GRCm39)		probably benign	Het
Rhebl1	C	T	15: 98,779,034 (GRCm39)	V17I	probably benign	Het
Rnf130	A	T	11: 49,986,703 (GRCm39)	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,642,952 (GRCm39)	L60P	probably damaging	Het
Rspry1	T	C	8: 95,356,420 (GRCm39)	I25T	probably damaging	Het
Ruvbl2	C	T	7: 45,071,621 (GRCm39)	V421M	probably damaging	Het
Sap30	T	C	8: 57,936,000 (GRCm39)	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,581,042 (GRCm39)		probably benign	Het
Slc1a2	G	A	2: 102,586,352 (GRCm39)	V319M	probably damaging	Het
Smad2	T	C	18: 76,422,250 (GRCm39)		probably benign	Het
Spdya	T	C	17: 71,869,585 (GRCm39)		probably null	Het
Stk39	G	A	2: 68,240,392 (GRCm39)	T113M	probably damaging	Het
Tanc1	A	G	2: 59,626,382 (GRCm39)		probably benign	Het
Tas2r122	T	C	6: 132,688,774 (GRCm39)	K40E	probably damaging	Het
Tph2	G	T	10: 115,010,039 (GRCm39)		probably benign	Het
Trip12	G	A	1: 84,729,269 (GRCm39)	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,845,701 (GRCm39)	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,760,681 (GRCm39)	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,315,546 (GRCm39)	M142I	possibly damaging	Het
Uso1	T	C	5: 92,347,682 (GRCm39)	S766P	probably benign	Het
Usp21	G	A	1: 171,111,319 (GRCm39)		probably benign	Het
Usp48	T	A	4: 137,360,437 (GRCm39)	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,804,583 (GRCm39)	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,760,937 (GRCm39)	A807T	probably damaging	Het
Zfp329	A	T	7: 12,544,379 (GRCm39)	C382S	probably damaging	Het
Zfp341	A	G	2: 154,487,988 (GRCm39)	E817G	probably benign	Het

Other mutations in Fam234b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Fam234b	APN	6	135,202,202 (GRCm39)	missense	probably damaging	1.00
IGL01020:Fam234b	APN	6	135,188,904 (GRCm39)	missense	probably benign	0.13
IGL01731:Fam234b	APN	6	135,188,903 (GRCm39)	missense	possibly damaging	0.90
IGL01994:Fam234b	APN	6	135,202,203 (GRCm39)	nonsense	probably null
IGL02010:Fam234b	APN	6	135,186,405 (GRCm39)	missense	probably benign	0.17
IGL02071:Fam234b	APN	6	135,204,149 (GRCm39)	critical splice acceptor site	probably null
IGL02340:Fam234b	APN	6	135,208,659 (GRCm39)	missense	probably damaging	1.00
IGL02869:Fam234b	APN	6	135,202,201 (GRCm39)	missense	probably damaging	1.00
R0076:Fam234b	UTSW	6	135,204,224 (GRCm39)	missense	probably benign	0.00
R0076:Fam234b	UTSW	6	135,204,224 (GRCm39)	missense	probably benign	0.00
R0123:Fam234b	UTSW	6	135,194,072 (GRCm39)	missense	possibly damaging	0.46
R0127:Fam234b	UTSW	6	135,195,821 (GRCm39)	splice site	probably benign
R0225:Fam234b	UTSW	6	135,194,072 (GRCm39)	missense	possibly damaging	0.46
R0705:Fam234b	UTSW	6	135,204,213 (GRCm39)	missense	probably benign	0.11
R1140:Fam234b	UTSW	6	135,202,756 (GRCm39)	missense	probably benign	0.00
R1446:Fam234b	UTSW	6	135,186,328 (GRCm39)	splice site	probably null
R1464:Fam234b	UTSW	6	135,205,490 (GRCm39)	missense	probably benign	0.00
R1464:Fam234b	UTSW	6	135,205,490 (GRCm39)	missense	probably benign	0.00
R2044:Fam234b	UTSW	6	135,203,912 (GRCm39)	missense	probably benign	0.04
R2350:Fam234b	UTSW	6	135,208,722 (GRCm39)	missense	probably damaging	1.00
R3914:Fam234b	UTSW	6	135,202,681 (GRCm39)	missense	probably damaging	1.00
R4261:Fam234b	UTSW	6	135,186,134 (GRCm39)	missense	unknown
R5102:Fam234b	UTSW	6	135,186,282 (GRCm39)	missense	probably benign	0.03
R5133:Fam234b	UTSW	6	135,186,193 (GRCm39)	missense	probably benign	0.01
R5313:Fam234b	UTSW	6	135,186,185 (GRCm39)	missense	possibly damaging	0.56
R5375:Fam234b	UTSW	6	135,210,355 (GRCm39)	missense	probably damaging	1.00
R5418:Fam234b	UTSW	6	135,203,966 (GRCm39)	missense	probably benign	0.00
R5838:Fam234b	UTSW	6	135,202,265 (GRCm39)	missense	probably benign	0.00
R5953:Fam234b	UTSW	6	135,202,705 (GRCm39)	missense	possibly damaging	0.95
R6737:Fam234b	UTSW	6	135,205,513 (GRCm39)	missense	probably damaging	0.99
R7056:Fam234b	UTSW	6	135,205,450 (GRCm39)	missense	probably benign	0.32
R7221:Fam234b	UTSW	6	135,205,529 (GRCm39)	missense	probably damaging	1.00
R7418:Fam234b	UTSW	6	135,194,009 (GRCm39)	missense	probably benign	0.04
R7459:Fam234b	UTSW	6	135,188,899 (GRCm39)	missense	probably benign	0.04
R7599:Fam234b	UTSW	6	135,203,874 (GRCm39)	missense	probably damaging	1.00
R7602:Fam234b	UTSW	6	135,202,241 (GRCm39)	missense	possibly damaging	0.79
R7639:Fam234b	UTSW	6	135,202,798 (GRCm39)	splice site	probably null
R7748:Fam234b	UTSW	6	135,186,349 (GRCm39)	missense	probably damaging	1.00
R7773:Fam234b	UTSW	6	135,220,912 (GRCm39)	missense	probably benign	0.01
R8544:Fam234b	UTSW	6	135,210,287 (GRCm39)	missense	probably damaging	1.00
R9324:Fam234b	UTSW	6	135,202,793 (GRCm39)	nonsense	probably null
R9733:Fam234b	UTSW	6	135,194,008 (GRCm39)	missense	possibly damaging	0.50
Z1177:Fam234b	UTSW	6	135,175,006 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCACACTACAGGCTCACTGATG -3'
(R):5'- TATGCAGGTCTCTGGGAGGGCA -3'

Sequencing Primer
(F):5'- CTGTCTGACTTTCCAGGGAAGAAG -3'
(R):5'- TGGGAGGGCAGGGGATG -3'

Posted On

2013-06-11